Lv61
2060 积分 2022-05-04 加入
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome
1个月前
已完结
Clinical delineation of SETBP1 haploinsufficiency disorder
1个月前
已完结
Clinical delineation of SETBP1 haploinsufficiency disorder
1个月前
已完结
Speech and language deficits are central to SETBP1 haploinsufficiency disorder
1个月前
已完结
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
1个月前
已完结
Resisting AI slop
2个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
3个月前
已完结
First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked
6个月前
已完结
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
6个月前
已完结
Neurodevelopmental disorders
6个月前
已完结